Canonical Allele Identifier: CA2424881841
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401336_38401337delinsAC , CM000685.2:g.38401336_38401337delinsAC GRCh38
NC_000023.10:g.38260589_38260590delinsAC , CM000685.1:g.38260589_38260590delinsAC GRCh37
NC_000023.9:g.38145533_38145534delinsAC NCBI36
NG_008471.1:g.53854_53855delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.448_449delinsAC MANE Select ENSP00000039007.4:p.Thr150=
ENST00000643344.1:c.*198_*199delinsAC ENSP00000496606.1:n.*198_*199delinsAC
ENST00000039007.4:c.448_449delinsAC ENSP00000039007.4:p.Thr150=
ENST00000465127.1:c.172-264785_172-264784delinsAC ENSP00000417050.1:n.172-264785_172-264784...
ENST00000488812.1:n.485_486delinsAC
NM_000531.5:c.448_449delinsAC NP_000522.3:p.Thr150=
XM_017029556.1:c.448_449delinsAC XP_016885045.1:p.Thr150=
NM_000531.6:c.448_449delinsAC MANE Select NP_000522.3:p.Thr150=